A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018628



Internal ID18761161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175960531..176245085hg38UCSC Ensembl
Innerchr5:175387534..175672088hg19UCSC Ensembl
Innerchr5:175320140..175604694hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38284555
hg19284555
hg18284555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5833n100
Supporting Variantsnssv3649171
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1, THOC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018628
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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